Galactosialidosis in a Newborn with a Novel Mutation in the CTSA Gene Presenting with Transient Hyperparathyroidism

Galactosialidosis is a lysosomal storage disease caused by deficiency of protective protein that is encoded by the cathepsin A (CTSA) gene localized on chromosome 20q13.1. Mutations of this gene are the cause of galactosialidosis that result in loss of function of protective protein. Galactosialidos...

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Detalles Bibliográficos
Autores principales: Okulu, E, Tunc, G, Eminoglu, T, Erdeve, O, Atasay, B, Arsan, S
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sciendo 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5972510/
https://www.ncbi.nlm.nih.gov/pubmed/29876240
http://dx.doi.org/10.1515/bjmg-2017-0031

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5972510/
https://www.ncbi.nlm.nih.gov/pubmed/29876240
http://dx.doi.org/10.1515/bjmg-2017-0031

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